A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5507



Internal ID15197272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66527266..66552456hg38UCSC Ensembl
Outerchr14:66993984..67019174hg19UCSC Ensembl
Outerchr14:66063737..66088927hg18UCSC Ensembl
Outerchr14:66063737..66088927hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg389200
hg199200
hg189200
hg179200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1315
Supporting Variants
SamplesNA19129
Known GenesGPHN
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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